Canonical Allele Identifier: CA3341890
Community Standard Title: NM_032119.4(ADGRV1):c.15293A>C (p.Glu5098Ala)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90810553A>C , CM000667.2:g.90810553A>C GRCh38
NC_000005.9:g.90106370A>C , CM000667.1:g.90106370A>C GRCh37
NC_000005.8:g.90142126A>C NCBI36
NG_007083.1:g.256754A>C
NG_007083.2:g.286210A>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.15293A>C MANE Select NP_115495.3:p.Glu5098Ala
ENST00000405460.9:c.15293A>C MANE Select ENSP00000384582.2:p.Glu5098Ala
NM_032119.3:c.15293A>C NP_115495.3:p.Glu5098Ala
NR_003149.1:n.15306A>C
NR_003149.2:n.15309A>C
ENST00000405460.6:c.15293A>C ENSP00000384582.2:p.Glu5098Ala
ENST00000425867.2:c.2276A>C ENSP00000392618.2:p.Glu759Ala
ENST00000425867.3:c.4247A>C ENSP00000392618.3:p.Glu1416Ala
ENST00000638510.1:n.2560A>C
ENST00000639431.1:c.265+134344A>C ENSP00000491057.1:n.265+134344A>C
ENST00000640407.1:c.1703A>C ENSP00000491425.1:p.Glu568Ala
XM_011543675.1:c.15290A>C XP_011541977.1:p.Glu5097Ala
XM_011543676.1:c.15212A>C XP_011541978.1:p.Glu5071Ala
XM_011543677.1:c.12596A>C XP_011541979.1:p.Glu4199Ala
XM_017009963.2:c.15314A>C XP_016865452.1:p.Glu5105Ala
XM_017009964.2:c.15311A>C XP_016865453.1:p.Glu5104Ala
XM_017009965.1:c.15311A>C XP_016865454.1:p.Glu5104Ala
XM_017009966.2:c.15233A>C XP_016865455.1:p.Glu5078Ala
XM_017009967.1:c.15218A>C XP_016865456.1:p.Glu5073Ala
XM_017009968.2:c.15134A>C XP_016865457.1:p.Glu5045Ala
XM_017009969.2:c.15314A>C XP_016865458.1:p.Glu5105Ala
XM_017009971.2:c.*247A>C XP_016865460.1:n.*247A>C
XM_017009972.1:c.8432A>C XP_016865461.1:p.Glu2811Ala
XM_017009973.1:c.8411A>C XP_016865462.1:p.Glu2804Ala